Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome

Takeru Makiyama; Masaharu Akao; Yoshisumi Haruna; Keiko Tsuji; Takahiro Doi; Seiko Ohno; Yukiko Nishio; Toru Kita; Minoru Horie

doi:10.1253/circj.CJ-08-0508

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Mutation Analysis of the Glycerol-3 Phosphate Dehydrogenase-1 Like (GPD1L) Gene in Japanese Patients With Brugada Syndrome

Takeru Makiyama, Masaharu Akao, Yoshisumi Haruna, Keiko Tsuji, Takahiro Doi, Seiko Ohno, Yukiko Nishio, Toru Kita, Minoru Horie

著者情報

キーワード: Arrhythmia, Brugada syndrome, GPD1L

ジャーナルフリー早期公開

論文ID: CJ-08-0508

DOI https://doi.org/10.1253/circj.CJ-08-0508

この記事には本公開記事があります。

The final version of this article is now available: Vol. 72 (2008) , No. 10 p.1705

詳細

抄録

Brugada syndrome is an inherited arrhythmic disorder, and mutations in the SCN5A gene, encoding cardiac sodium channels, are identified in approximately 15% of cases. A novel causative gene (glycerol-3 phosphate dehydrogenase-1 like; GPD1L) has been reported, and in the present study, 80 unrelated Japanese patients were screened for GPD1L mutations: 1 synonymous mutation was identified, as well as 1 intronic variant, both of which were absent in 220 control alleles. Additionally, a single-nucleotide polymorphism was detected in 4 patients. No non-synonymous mutations were found. GPD1L does not appear to be a major cause of Brugada syndrome in the Japanese population.

責任著者(Corresponding author)

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